Mosaic trisomy 9 syndrome

disorder

SNOMED 764989007CUI C2930908

Overview

Mosaic trisomy 9 syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormally small eyeball

Very frequent (80-99%)HP:0000568

Cryptorchidism

Very frequent (80-99%)HP:0000028

Low-set ears

Very frequent (80-99%)HP:0000369

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental-retardation

Very frequent (80-99%)HP:0001249

Bulbous nose

Frequent (30-79%)HP:0000414

Curvature of finger

Frequent (30-79%)HP:0040019

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

High arched palate

Frequent (30-79%)HP:0000218

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Hypoplastic female external genitalia

Frequent (30-79%)HP:0012815

Large fontanelle

Frequent (30-79%)HP:0000239

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Oligohydramnios

Frequent (30-79%)HP:0001562

Rocker bottom feet

Frequent (30-79%)HP:0001838

Short neck

Frequent (30-79%)HP:0000470

Small for gestational age infant

Frequent (30-79%)HP:0001511

Tessier cleft

Frequent (30-79%)HP:0002006

VSD

Frequent (30-79%)HP:0001629

2 vessel cord

Occasional (5-29%)HP:0001195

Abnormal fallopian tube morphology

Occasional (5-29%)HP:0011027

Abnormal skeletal development

Occasional (5-29%)HP:0002652

Abnormality of the uterus

Occasional (5-29%)HP:0000130

Absent spleen

Occasional (5-29%)HP:0001746

Anomalous liver lobulation

Occasional (5-29%)HP:0100752

Atria septal defect

Occasional (5-29%)HP:0001631

Biparietal narrowing

Occasional (5-29%)HP:0004422

Cleft of palate

Occasional (5-29%)HP:0000175

Related Conditions

Trisomy 9(parent)

Quick Facts

SNOMED CT: 764989007
UMLS CUI: C2930908
Fully Specified Name: Mosaic trisomy 9 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.